glycosaminoglycan storage disease

ムコ多糖症

WordNet

1. an impairment of health or a condition of abnormal functioning
2. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
3. the act of storing something
4. the commercial enterprise of storing goods and materials
5. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
4. 病気にかかった / 病的な,不健全な(morbid)

UpToDate Contents

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• 1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
• 2. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management
• 3. 肝疾患患者における止血異常 hemostatic abnormalities in patients with liver disease
• 4. Carrier screening for genetic disease in the Ashkenazi Jewish population
• 5. 先天性代謝異常：分類 inborn errors of metabolism classification

English Journal

• Glycosaminoglycans and mucopolysaccharidosis type III.

• Jakobkiewicz-Banecka J1, Gabig-Ciminska M2, Kloska A1, Malinowska M1, Piotrowska E1, Banecka-Majkutewicz Z3, Banecki B4, Wegrzyn A2, Wegrzyn G5.
• Frontiers in bioscience (Landmark edition).Front Biosci (Landmark Ed).2016 Jun 1;21:1393-409.
• Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes cod
• PMID 27100513

• Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.

• Braunlin E1, Wang R2.
• Heart (British Cardiac Society).Heart.2016 Apr 21. pii: heartjnl-2015-309258. doi: 10.1136/heartjnl-2015-309258. [Epub ahead of print]
• The growing availability of innovative treatments for rare genetic diseases with a cardiac component-such as the mucopolysaccharidoses (MPSs)-has changed these syndromes from 'back of the textbook' curiosities of childhood to chronic, but rare, adult cardiac conditions that require both centres of e
• PMID 27102649

• Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.

• Kingma SD1, Wagemans T2, IJlst L3, Bronckers AL4, van Kuppevelt TH5, Everts V6, Wijburg FA7, van Vlies N8.
• Bone.Bone.2016 Apr 19. pii: S8756-3282(16)30102-8. doi: 10.1016/j.bone.2016.01.029. [Epub ahead of print]
• The mucopolysaccharidoses (MPSs) comprise a group of lysosomal storage disorders characterized by deficient enzymatic degradation and subsequent accumulation of glycosaminoglycans (GAGs). Progressive bone and joint disease are a major cause of morbidity in the MPSs, and current therapeutic strategie
• PMID 27105565

Related Links

• Glycosaminoglycan Storage Disorders: A Review

Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs).

• Mucopolysaccharide Storage Disorders - ELS: Citable ...

Mucopolysaccharide Storage Disorders Mirella Filocamo, S.S.D. Lab. Diagnosi Pre‐Postnatale Malattie Metaboliche, Genova, Italy David N Cooper, Institute of Medical Genetics, Cardiff, UK Maja Di Rocco, S.S. Malattie Rare ...

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★リンクテーブル★

リンク元	「ムコ多糖症」
関連記事	「disease」「storage」「glycosaminoglycan」

「ムコ多糖症」

　　[★]

英

mucopolysaccharidosis MPS,mucopolysaccharidoses, MPSs

同

ムコ多糖蓄積症、グリコサミノグリカン蓄積症 glycosaminoglycan storage disease、ムコ多糖体症

関

ムコ多糖

• 表：first aid step1 2006 p.99, HIM.2452, HBC.556

ムコ多糖症

ハンターのみX連鎖劣性遺伝でその他は常染色体性劣性遺伝

• ハーラー症候群：MPS IH：常染色体性劣性遺伝：
• ハンター症候群：MPS II：X連鎖劣性遺伝　　 ：
• モルキオ症候群：MPS IV：常染色体性劣性遺伝：

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store

　 　 　 　

「glycosaminoglycan」

　　[★] グリコサミノグリカン